C1721Y (p.Cys1721Tyr) variant of FBN1 (Fibrillin-1)
C1721Y (p.Cys1721Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr. The record also includes variant effect predictions and published literature.
C1721Y (p.Cys1721Tyr) variant details
- p.Cys1721Tyr
- rs2043292594
- ClinGen CA392349165
- ClinVar RCV001228640
- ClinVar RCV005627415
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr
- Missense
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)